Electron micrscopic studies were performed on the rectal mucosa obtained by Crosby-Kugler biopsy capsule from patients with Hurler syndrome, Scheie syndrome, Morquio syndrome, Tay-Sachs disease, Niemann-Pick disease, Gaucher disease, I-cell disease, and a new type of mucolipidosis.
Because of coexistent connective tissue cells, histiocytes, Schwann cells, and axons in adequate specimens, a rectal mucosal biopsy can serve for the diagnosis not only sphingolipidoses but also of acid mucopolysaccharidoses and mucolipidoses.
In Hurler syndrome, Niemann-Pick disease. I-cell disease, and a new type of mucolipidosis, a number of characteristic vacuoles and cytosomes were found in the cytoplasm of connective tissue cells, histiocytes, Schwann cells, and axons.
In Scheie syndrome, numerous vacuoles were found in the cytoplasm of connective tissue cells and histiocytes, but Schwann cells and axons were normal.
In Tay-Sachs disease, a number of cytosomes similar to those seen in ganglion cells were found only in Schwann cells and axons.
In Gaucher disease, Gaucher cells could not been seen in rectal mucosa, and in Morquio syndrome, Schwann cells, axons, and histioctes were unremarkable.

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A case of moyamoya disease, accompanied with hypertension, was presented.
The patient, 4 years of age, was attacked by sudden paresis of the extremities. CAG showed conspicuous narrowing at the beginning of the ophthalmic, anterior cerebral and posterior cerebral arteries. Unusual net-like collaterals were also noted at the base of cerebrum. Right internal carotid artery showed alternating zones of widening and narrowing of the arte rial lumen at about 3cm. above the bifurcation.
Right renal artery was composed of two branches and showed marked narrowing at the beginning.
From angiographic findings, the authors concluded that the symptomes and signs of this patient were originally caused by systemic dis ease of the arteries, “fibromuscular dysplasia”.

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Motor conduction velocity was examined in twenty five cases of various neurological dege nerative diseases, and peripheral nerve involve ment in these cases was discussed by comparing motor conduction velocitiy with clinical features and electromyographic findings.
1. Significant reduction in motor conduction velocity was noted in two cases of metachro matic leucodystrophy, a case with globoid cell leucodystrophy and one with Friedreich's ataxia.
2. Electromyography showed finding sugges tive of neurogenic process in Sandhoff's disease, metachromatic leucodystrophy, globoid cell leucodystrophy, Friedreich's ataxia, Fabry's disease and infantile neuroaxonal dystrophy.
3. Cerebrospinal fluid examination revealed albuminocytologic dissociation in two cases of metachromatic leucodystrophy and a case with globoid cell leucodystrophy.
4. It was concluded that there exist peripheral neuropathies in metachromatic leucodystrophy, globoid cell leucodystrophy, Friedreich's ataxia, infantile neuroaxonal dystrophy and Fabry's disease.
Further investigation seems to be necessary on peripheral nerve invlovement of other lipidoses and ataxia telangiectasia.

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We have studied 33 cases with epileptic hemi convulsions in infancy and childhood from which the Jacksonian seizures welt excluded. Seizures were tonic-clonic or clonic, with autonomic symptoms followed by loss of consciousness. The hemiconvulsions shifted from one side to the other, often resulting in status epilepticus. Tran sient hemiplegia was not rarely observed after the fit. The patterns of ictal EEG were divided into two groups; the one with diffuse and bilate rally synchronous seizure discharges, and the other with focal discharges spreading over the ipsilateral hemisphere. Interictal EEG recordings showed asymmetrical background activities and spike discharges in most cases.
It can be concluded that the clinical hemiconvul sive seizures consist of two types; the one with centencephalic lesion, and the other with folcal cortical lesion, from which the discharge is projected to centencephalic system and the subcortical discharge is in turn projected to the ipsilateral hemisphere.

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A case of Sandhoff's disease, who was still alive at 6 years of age, was reported. On serum hexosaminidase assay, component A was absent and component B was extremely low in enzyma tic activity.
Reviewing literature, it was found that 14 cases of Sandhoff's disease had been reported from 1968 till 1972.
Clinical features of our case were almost the same as those described in the literatures, except for slow progression.

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In 1952, Cogan described an unusual clinical condition in four pediatric cases under the name of “congenital ocular motor apraxia”.
The first Japanese case of this condition was reported by Inatomi in 1960. The authors preesented two male infants afflicted with conditions closely similar to those described by Cogan, and compared them with 34 cases which were collected from the literature.
The first case, aged two years seven months boy, had shown abnormal side to side head shaking movement associated with peculiar eye movement since 5 or 6 months of age. We found out the cerebral juxtabasal telangiectasia in verte bral angiography, but no other clinical manifes tations except the ocular apraxia.
The second case, aged six months old boy, had shown the similar head and eye movements since 2 months of age. His grandfathers were brother. No accidents were noticed in intrauterine period but he had affected with cerebral palsy (variable rigid quadriplegia, moderate degree, unknown etiology) complicated with bilateral congenital blepharoptosis, high arched palate and umbilical hernia. We found out the asymmetric (lt>rt) enlargement of lateral ventricle (Evans ratio=0.32) and cortical atrophy on P.E.G.

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The patient, eight year old boy, had onset of his running fit at the age of four. The attack usually occured one hour after falling asleep about once every three weeks and it was asso ciated with whining. However any emotion precipitating factor to his behavior did not occur. During the attack the patient was unconscious and for which there was amnesia.
No other epileptic manifestation like convul sive disorder had been observed.
At the age of six, the attack was relieved spontaneously without any medication, of which the recurrence and a increase in the frequency occured two years after.
Findings of the electroencephalogram, spike and wave burst appeared in both frontal and fronto-temporal regions and dominantly in the right hemisphere during induced sleep with pento barbital 125 mg.
These running fits were controlled by sulthiame 100mg.
This case of epilepsia cursiva which occurs during sleep is thought as a running form of psychomotor automatism.
Differential diagnosis with night terrors was discussed.

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Neonatal seizures show specific clinical manifestations such as brief tonic extension of body, clonic movements of one extremities or episodes of apnea or tremor. Classical tonic-clonic convulsion is the least common type and the term “seizure” is more appropriate than “convulsion”.
Ten newborns with neonatal seizures which developed within the first 9 days of life were des cribed clinically and electroencephalographically.
The causes of seizures were cephalhematoma with prolonged labor (perinatal anoxia), subara chnoid hemorrhage, postmaturity, hypoglycemia, hypocalcemia and sepsis with meningitis.
All EEG tracings of 5 cases which were recorded during clinical seizures showed “repeated stereotyped wave complex”. In 9 cases of the 10 newborns, interseizure EEGs were abnormal; five were unifocal, four were multifocal and one had borderderline EEG.
Neonatal seizures occurred in 0.5% of newborn infants of our hospital and all were full-term babies.
Diagnosis, treatment and prognosis were also reviewed briefly.

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